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259730.G.1
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Subject Details
Country
United Arab Emirates
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Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000067.3:c.232+1G>A
4
Osteopetrosis, Autosomal Recessive 3
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Remarks
2 Emirati patients
References
Al-Shamsi et al. 2014
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